[genome-announce] eMERGE polygenic risk scores for human (hg19)

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Jairo Navarro Gonzalez

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Oct 23, 2023, 8:48:13 PM10/23/23
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Hello everyone,

We are pleased to announce the release of the eMerge polygenic risk scores for the human assembly GRCh37/hg19. Polygenic risk scores (PRS) have clinical utility and are the result of many years of GWAS studies. A score is given for a combination of SNPs to calculate the risk of getting a disease in a healthy population. These scores work very well for cancer, cardiomyopathies, and is extending to other diseases.

The Polygenic Risk Scores eMERGE track shows variants that are part of selected polygenic risk scores for 8 common diseases. The risk scores were selected by the NHGRI eMERGE project, and the selection process is described in Lennon et al. 2023. Many PRS models were evaluated, and the 8 models in this track were selected based on quality:

  • Asthma
  • Atrial Fibrillation
  • Breast Cancer
  • Coronary Heart Disease
  • Hypercholesterolemia
  • Prostate Cancer
  • T1 Diabetes
  • T2 Diabetes

We would like to thank Elisabeth McNally for providing advice and Niall Lennon for sharing the data with the UCSC Genome Browser team. We would also like to thank Zia Truong and Max Haeussler for building these tracks.

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